Universitą degli studi di Pavia
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Della Mina research activity
During my PhD course I have dedicated three years to the research of underlying molecular causes of neurological diseases [Intellectual disabilities (DD/ID), Autism spectrum disorders (ASD), Epilepsy, Parkinson’s disease] and marginally to the identification of chromosomal imbalances related to other diseases, such as Peutz-Jeghers syndrome and Disorders of Sexual Development. I have used two main techniques for the research; analysis by array-CGH, using different Agilent platforms, and Massive Parallel Sequencing, using Illumina GAIIx.
I have dealt with the aimed study, thru Array-CGH, of patients characterized by intellectual disability and/or multiple congenital anomalies for more than two years by analyzing approximately 400 patients (both pediatric and adult cases) for which previous conventional karyotype analysis have not been able to the determination of genetic basis of their illnesses. The same method was also applied to the study of subjects with ASD to identify genomic aberrations in a research project involving 7 centers, funded by the Telethon Foundation.
In parallel with this work, I have also dealt with the development of massively parallel sequencing protocols system using “Sure Select Agilent Technologies” enrichment system and the Next Generation Sequencing Illumina GAIIx platform. This innovative technology allows the examination of entire genomes or genomic portions with fast run-times and very low costs compared to the traditional sequencing.
Exome sequencing of small groups of individuals affected from the same pathology, or of families where a mendelian disorder of unknown etiology has been segregated, have identified the gene responsible for a number of conditions [Kabuki Syndrome (Ng et ak, 2010), Miller syndrome (Ng et al, 2010), Schinzel-Giedion syndrome (Hoischen et al, (2011)]. The further application of this technology takes advantage of platforms containing exons’ sequences of all genes known to be associated with specific diseases, genetically heterogeneous; with this approach the technique assumes even greater interest in diagnosis and therapy. This project involves the sequencing of patients with various forms of idiopathic epilepsy using a platform consisting of the sequences of exons and exone-introne junction regions of about 106 genes known to be related to epilepsy.
I have dealt with the aimed study, thru Array-CGH, of patients characterized by intellectual disability and/or multiple congenital anomalies for more than two years by analyzing approximately 400 patients (both pediatric and adult cases) for which previous conventional karyotype analysis have not been able to the determination of genetic basis of their illnesses. The same method was also applied to the study of subjects with ASD to identify genomic aberrations in a research project involving 7 centers, funded by the Telethon Foundation.
In parallel with this work, I have also dealt with the development of massively parallel sequencing protocols system using “Sure Select Agilent Technologies” enrichment system and the Next Generation Sequencing Illumina GAIIx platform. This innovative technology allows the examination of entire genomes or genomic portions with fast run-times and very low costs compared to the traditional sequencing.
Exome sequencing of small groups of individuals affected from the same pathology, or of families where a mendelian disorder of unknown etiology has been segregated, have identified the gene responsible for a number of conditions [Kabuki Syndrome (Ng et ak, 2010), Miller syndrome (Ng et al, 2010), Schinzel-Giedion syndrome (Hoischen et al, (2011)]. The further application of this technology takes advantage of platforms containing exons’ sequences of all genes known to be associated with specific diseases, genetically heterogeneous; with this approach the technique assumes even greater interest in diagnosis and therapy. This project involves the sequencing of patients with various forms of idiopathic epilepsy using a platform consisting of the sequences of exons and exone-introne junction regions of about 106 genes known to be related to epilepsy.
